Prediction of Familial Hypercholesterolemia in Patients at High Atherosclerotic Cardiovascular Disease Risk Using a Recently Validated Algorithm

Alothman, Latifah; Zawadka, Magdaline; Aljenedil, Sumayah; Kajil, Mahesh; Bewick, David; Gaudet, Daniel; Hegele, Robert A.; Lonn, Eva; Ngui, Daniel; Ruel, Isabelle L.; Tsigoulis, Michelle; Singh, Narendra; Genest, Jacques; Gupta, Milan

doi:10.1016/j.cjco.2019.05.006

Cited by 2 publications

(1 citation statement)

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“…110 Despite the clinical utility of molecular testing, the diagnosis of FH is primarily clinical. [111][112][113] On top of life habits, statin therapy, with or without ezetimibe, is the standard of care for HeFH and can be started during childhood. 114 115 Monoclonal antibodies or siRNA agents inhibiting proprotein convertase subtilisin/kexin type 9 (PCSK9), a serine protease that binds and promotes the lysosomal degradation of the LDLR, and incrementally decrease LDL-C in HeFH by more than 50% are now available in affected adults [116][117][118] and are currently under advanced clinical investigation in the severe paediatric HeFH population.…”

Section: Familial Hypercholesterolaemia (Fh Mim 143890)mentioning

confidence: 99%

Genetic burden linked to founder effects in Saguenay–Lac-Saint-Jean illustrates the importance of genetic screening test availability

et al. 2021

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The Saguenay–Lac-Saint-Jean (SLSJ) region located in the province of Quebec was settled in the 19th century by pioneers issued from successive migration waves starting in France in the 17th century and continuing within Quebec until the beginning of the 20th century. The genetic structure of the SLSJ population is considered to be the product a triple founder effect and is characterised by a higher prevalence of some rare genetic diseases. Several studies were performed to elucidate the historical, demographic and genetic background of current SLSJ inhabitants to assess the origins of these rare disorders and their distribution in the population. Thanks to the development of new sequencing technologies, the genes and the variants responsible for the most prevalent conditions were identified. Combined with other resources such as the BALSAC population database, identifying the causal genes and the pathogenic variants allowed to assess the impacts of some of these founder mutations on the population health and to design precision medicine public health strategies based on carrier testing. Furthermore, it stimulated the establishment of many public programmes.We report here a review and an update of a subset of inherited disorders and founder mutations in the SLSJ region. Data were collected from published scientific sources. This work expands the knowledge about the current frequencies of these rare disorders, the frequencies of other rare genetic diseases in this population, the relevance of the carrier tests offered to the population, as well as the current available treatments and research about future therapeutic avenues for these inherited disorders.

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Section: Familial Hypercholesterolaemia (Fh Mim 143890)mentioning

confidence: 99%

Genetic burden linked to founder effects in Saguenay–Lac-Saint-Jean illustrates the importance of genetic screening test availability

et al. 2021

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Triple-combined hypolipidaemic therapy in familial hypercholesterolaemia: clinical cases

Chepurnenko

Шавкута

Safonova

2021

Kuban. nauсh. med. vestnik

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Background. The prevalence of heterozygous familial hypercholesterolaemia (HeFH) comprises 1 per 250 people. The risk of premature cardiovascular disease (CVD) is 20 times higher in HeFH patients among the general population. CVD develops in HeFH patients under 20 years of age, and they usually do not survive to 30 years. Therefore, the primary treatment track here is correction of dyslipidaemia to prevent atherosclerosis progression and CVD. Clinical Case Descriptions. The article describes the clinical cases of familial dyslipidaemia in 47-yo patient M. and his 75-yo mother P. The patient had a visit related to blood pressure (BP) surges up to 140/90 mm Hg. In history: acute myocardial infarction (AMI) in maternal grandfather at 50 years and own uncle at 32 years. The patient’s cardiovascular risk factors: male gender, dyslipidaemia (total cholesterol (TC) 15.8 mmol/L), overweight (body mass index 29.9 kg/m2), familial history of young CVD, sedentary lifestyle (employed as manager), psychological and socioeconomic factors (work-related stress pressure), resting heart rate 88 beats/min. The patient was immediately ordered a combined hypolipidaemic therapy including rosuvastatin 20 mg, ezetimibe 10 mg, telmisartan 40 mg once daily for blood pressure correction. In 1-month therapy, cholesterol dropped to 4.4 mmol/L, low-density lipoprotein (LDL) cholesterol – to 2.2, but triglycerides remained high at 3.9 mmol/L. Fenofi brate added to therapy at 145 mg 1 time. Another 1-month therapy allowed the overall reduction of TC to 3.7, LDL cholesterol to 1.9, triglycerides to 2.17 and high-density lipoproteins to 1.19 mmol/L. Past 3 months, a further drop was observed in triglycerides to 1.7 mmol/L. Hence, a triple hypolipidaemic therapy facilitated the target LDL and triglyceride values without involving expensive medications like PCSK9 blockers. The patient’s mother also achieved the target basic lipidogram owing to a triple lipid-lowering therapy.Conclusion. The case is of interest to exemplify a successful triple lipid-lowering therapy in patients with familial hypercholesterolaemia.

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Prediction of Familial Hypercholesterolemia in Patients at High Atherosclerotic Cardiovascular Disease Risk Using a Recently Validated Algorithm

Cited by 2 publications

References 22 publications

Genetic burden linked to founder effects in Saguenay–Lac-Saint-Jean illustrates the importance of genetic screening test availability

Genetic burden linked to founder effects in Saguenay–Lac-Saint-Jean illustrates the importance of genetic screening test availability

Triple-combined hypolipidaemic therapy in familial hypercholesterolaemia: clinical cases

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